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. 2024 Mar 1;20(3):339-344.
doi: 10.5664/jcsm.10854.

Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as a possible feature

Munker Dieter  1 , Peikert Kevin  2   3   4 , Veit Tobias  1 , Hermann Andreas  2   3   5 , Nowak Lorenz  6 , Kahnert Kathrin  1 , Kneidinger Nikolaus  1 , Behr Juergen  1 , Remi Jan  7 , Danek Adrian  7
Affiliations

Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as a possible feature

Munker Dieter et al. J Clin Sleep Med. .

Abstract

Study objectives: McLeod syndrome is a very rare multisystemic neurodegenerative disease linked to mutations in the XK gene. It has cardiac, neurologic, and neuromuscular manifestations and shares similarities with Huntington's disease. The aim of this study was to evaluate sleep patterns of patients affected by McLeod syndrome.

Methods: This retrospective case series of four males who underwent diagnostic polysomnography (mean age 53.8 ± 2.5 years) includes self-reported and objective evaluation of sleep using the Epworth Sleepiness Scale, genetic tests, documentation of clinical course and features, and laboratory-based full-night attended video-polysomnography.

Results: In three out of four patients, an Epworth Sleepiness Scale score ≥ 7 was evident. The average apnea-hypopnea index was 45.0 ± 19.0, with predominantly obstructive phenotype in three patients and predominant central events (central sleep apnea syndrome) in one patient. A significantly increased periodic limb movement index during sleep was observed in all patients. All patients tolerated continuous positive airway pressure or pressure controlled therapy.

Conclusions: Polysomnography of all patients confirmed sleep apnea syndrome as a feature of McLeod syndrome. Three patients were diagnosed with obstructive sleep apnea and one with central sleep apnea syndrome. In addition, periodic limb movement index was increased in all patients.

Citation: Dieter M, Kevin P, Tobias V, et al. Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as a possible feature. J Clin Sleep Med. 2024;20(3):339-344.

Keywords: McLeod syndrome; XK gene; central sleep apnea; obstructive sleep apnea; periodic limb movements; polysomnography.

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Conflict of interest statement

All authors have seen and approved the manuscript. K.P. is supported by the Rostock Academy of Science. A.H. is supported by the Hermann und Lilly Schilling-Stiftung für medizinische Forschung im Stifterverband. The authors report no conflicts of interest.

References

    1. Danek A, Rubio JP, Rampoldi L, et al. . McLeod neuroacanthocytosis: genotype and phenotype . Ann Neurol. 2001. ; 50 ( 6 ): 755 – 764 . - PubMed
    1. Roulis E, Hyland C, Flower R, Gassner C, Jung HH, Frey BM . Molecular basis and clinical overview of McLeod syndrome compared with other neuroacanthocytosis syndromes: a review . JAMA Neurol. 2018. ; 75 ( 12 ): 1554 – 1562 . - PubMed
    1. Weaver J, Sarva H, Barone D, et al. . McLeod syndrome: five new pedigrees with novel mutations . Parkinsonism Relat Disord. 2019. ; 64 : 293 – 299 . - PubMed
    1. Lim MM, Sarva H, Hiller A, Feitell S, Oates P, Barone D, Walker RH . Sleep disorders in McLeod syndrome: a case series . Parkinsonism Relat Disord. 2022. ; 102 ( 102 ): 86 – 88 . - PubMed
    1. Vignatelli L, Plazzi G, Barbato A, Ferini-Strambi L, Manni R, Pompei F, D’Alessandro R ; GINSEN (Gruppo Italiano Narcolessia Studio Epidemiologico Nazionale) . Italian version of the Epworth Sleepiness Scale: external validity . Neurol Sci. 2003. ; 23 ( 6 ): 295 – 300 . - PubMed

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